Ataxia telangiectasia causes: Difference between revisions
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* Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder. | * Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder. | ||
* The disease results from defects in the '''ataxia telangiectasia mutated (ATM) gene'''. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement. | * The disease results from defects in the '''ataxia telangiectasia mutated (ATM) gene'''. The '''ATM''' gene is involved in making protein that control [[cell division]] and DNA repair. The '''ATM''' protein helps cells to identify damaged and broken DNA and activates enzymes which fix the broken parts.<ref name="titleAtaxia-Telangiectasia: Immunodeficiency Disorder: Genetic Home Reference">{{cite web |url=http://www.ghr.nlm.nih.gov/condition/ataxia-telangiectasia#inheritance}}</ref>. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement. | ||
* Boys and girls are equally affected. | * Boys and girls are equally affected. | ||
== References == | == References == | ||
{{reflist | {{reflist}} | ||
[[Category:Needs overview]] | [[Category:Needs overview]] | ||
Latest revision as of 11:34, 12 June 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Causes
- Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder.
- The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. The ATM gene is involved in making protein that control cell division and DNA repair. The ATM protein helps cells to identify damaged and broken DNA and activates enzymes which fix the broken parts.[1]. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement.
- Boys and girls are equally affected.
References
- ↑ http://www.ghr.nlm.nih.gov/condition/ataxia-telangiectasia#inheritance. Missing or empty
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